Valent Peter, Cerny-Reiterer Sabine, Hoermann Gregor, Sperr Wolfgang R, Müllauer Leonhard, Mannhalter Christine, Pehamberger Hubert
Department of Internal Medicine I, Division of Hematology & Hemostaseology, Medical University of Vienna Austria ; Ludwig Boltzmann Cluster Oncology, Medical University of Vienna Austria.
Department of Laboratory Medicine, Medical University of Vienna Austria.
Am J Blood Res. 2014 Dec 15;4(2):93-100. eCollection 2014.
Systemic mastocytosis (SM) is a hematopoietic disorder characterized by abnormal expansion of mast cells (MCs) in visceral organs. The skin is involved in most cases. In adult patients the transforming KIT mutation D816V is usually present and confers resistance against imatinib. Therefore, imatinib is not recommended for patients with KIT D816V+ SM. Nonetheless, imatinib may work in patients with SM lacking KIT D816V. However, little is known about long-term efficacy and safety of this drug in SM. We report on a 62-year-old female patient with indolent SM (ISM) who suffered from severe debilitating skin involvement despite therapy with anti-mediator-type drugs, psoralen and ultraviolet-A-radiation. Although multifocal MC infiltrates were detected in the bone marrow by immunohistochemistry, no KIT mutation was found by sequencing analysis. In 2003, treatment with imatinib (induction, 400 mg/day; maintenance, 200 mg/day) was initiated. During therapy, skin lesions and tryptase levels decreased. Treatment was well tolerated without any side effects. After 10 years, skin lesions have disappeared and the tryptase level is within normal range. This case-study confirms the long-term efficacy and safety of imatinib in patients with SM lacking activating KIT mutations. Imatinib should be considered in select cases of SM in whom MCs exhibit wild-type KIT.
系统性肥大细胞增多症（SM）是一种造血系统疾病，其特征是内脏器官中肥大细胞（MC）异常增殖。大多数病例累及皮肤。成年患者通常存在KIT基因的转化突变D816V，该突变使患者对伊马替尼耐药。因此，不推荐KIT D816V阳性的SM患者使用伊马替尼。尽管如此，伊马替尼可能对缺乏KIT D816V的SM患者有效。然而，关于该药物在SM患者中的长期疗效和安全性知之甚少。我们报告了一名62岁的惰性系统性肥大细胞增多症（ISM）女性患者，尽管接受了抗介质类药物、补骨脂素和紫外线A照射治疗，但仍有严重的皮肤病变，严重影响生活质量。免疫组化检测发现骨髓中有多灶性MC浸润，但测序分析未发现KIT突变。2003年开始使用伊马替尼治疗（诱导剂量，400mg/天；维持剂量，200mg/天）。治疗期间，皮肤病变和类胰蛋白酶水平下降。治疗耐受性良好，无任何副作用。10年后，皮肤病变消失，类胰蛋白酶水平恢复正常。该病例研究证实了伊马替尼在缺乏激活型KIT突变的SM患者中的长期疗效和安全性。对于MC表现为KIT野生型的特定SM病例，应考虑使用伊马替尼。
